Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31070713C>GCA2641388076DSC2c.1821+13G>C (n.1821+13G>C)
c.2250+13G>C (n.2250+13G>C)
 gnomAD v4
18g.31070713C>TCA2641388077DSC2c.1821+13G>A (n.1821+13G>A)
c.2250+13G>A (n.2250+13G>A)
 gnomAD v4
18g.31070714C>ACA035630DSC2c.1821+12G>T (n.1821+12G>T)
c.2250+12G>T (n.2250+12G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070714C=CA2293646632DSC2c.1821+12G= (n.1821+12G=)
c.2250+12G= (n.2250+12G=)
18g.31070714C>TCA2293646633DSC2c.1821+12G>A (n.1821+12G>A)
c.2250+12G>A (n.2250+12G>A)
 dbSNP
18g.31070716G>CCA035618DSC2c.1821+10C>G (n.1821+10C>G)
c.2250+10C>G (n.2250+10C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070716G=CA2293646634DSC2c.1821+10C= (n.1821+10C=)
c.2250+10C= (n.2250+10C=)
18g.31070717A=CA2293646635DSC2c.1821+9T= (n.1821+9T=)
c.2250+9T= (n.2250+9T=)
18g.31070717A>CCA629140414DSC2c.1821+9T>G (n.1821+9T>G)
c.2250+9T>G (n.2250+9T>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31070719T>GCA778393022DSC2c.1821+7A>C (n.1821+7A>C)
c.2250+7A>C (n.2250+7A>C)
 dbSNP
18g.31070719T=CA2293646636DSC2c.1821+7A= (n.1821+7A=)
c.2250+7A= (n.2250+7A=)
18g.31070720A>GCA2641388079DSC2c.1821+6T>C (n.1821+6T>C)
c.2250+6T>C (n.2250+6T>C)
 gnomAD v4
18g.31070723T>ACA2641388080DSC2c.1821+3A>T (n.1821+3A>T)
c.2250+3A>T (n.2250+3A>T)
 gnomAD v4
18g.31070723T>CCA658658732DSC2c.1821+3A>G (n.1821+3A>G)
c.2250+3A>G (n.2250+3A>G)
 ClinVar dbSNP gnomAD v4
18g.31070723T=CA2293646637DSC2c.1821+3A= (n.1821+3A=)
c.2250+3A= (n.2250+3A=)
18g.31070724A=CA2293646638DSC2c.1821+2T= (n.1821+2T=)
c.2250+2T= (n.2250+2T=)
18g.31070724A>CCA402112258DSC2c.1821+2T>G (n.1821+2T>G)
c.2250+2T>G (n.2250+2T>G)
18g.31070724A>GCA16620671DSC2c.1821+2T>C (n.1821+2T>C)
c.2250+2T>C (n.2250+2T>C)
 ClinVar dbSNP gnomAD v4
18g.31070724A>TCA402112256DSC2c.1821+2T>A (n.1821+2T>A)
c.2250+2T>A (n.2250+2T>A)
18g.31070725C>ACA402112261DSC2c.1821+1G>T (n.1821+1G>T)
c.2250+1G>T (n.2250+1G>T)
 gnomAD v4
18g.31070725C=CA2293646639DSC2c.1821+1G= (n.1821+1G=)
c.2250+1G= (n.2250+1G=)
18g.31070725C>GCA402112262DSC2c.1821+1G>C (n.1821+1G>C)
c.2250+1G>C (n.2250+1G>C)
 ClinVar dbSNP
18g.31070725C>TCA402112264DSC2c.1821+1G>A (n.1821+1G>A)
c.2250+1G>A (n.2250+1G>A)
 ClinVar dbSNP gnomAD v4
18g.31070726C>ACA503384701DSC2c.1821G>T (p.Val607=)
c.2250G>T (p.Val750=)
 COSMIC COSMIC
18g.31070726C>GCA503384702DSC2c.1821G>C (p.Val607=)
c.2250G>C (p.Val750=)
18g.31070726C>TCA503384703DSC2c.1821G>A (p.Val607=)
c.2250G>A (p.Val750=)
18g.31070727A>CCA402112266DSC2c.1820T>G (p.Val607Gly)
c.2249T>G (p.Val750Gly)
18g.31070727A>GCA402112268DSC2c.1820T>C (p.Val607Ala)
c.2249T>C (p.Val750Ala)
18g.31070727A>TCA402112269DSC2c.1820T>A (p.Val607Glu)
c.2249T>A (p.Val750Glu)
18g.31070728C>ACA402112274DSC2c.1819G>T (p.Val607Leu)
c.2248G>T (p.Val750Leu)
18g.31070728C=CA2293646640DSC2c.1819G= (p.Val607=)
c.2248G= (p.Val750=)
18g.31070728C>GCA035580DSC2c.1819G>C (p.Val607Leu)
c.2248G>C (p.Val750Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070728C>TCA402112273DSC2c.1819G>A (p.Val607Met)
c.2248G>A (p.Val750Met)
 ClinVar dbSNP
18g.31070729T>ACA035557DSC2c.1818A>T (p.Lys606Asn)
c.2247A>T (p.Lys749Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070729T>CCA503384704DSC2c.1818A>G (p.Lys606=)
c.2247A>G (p.Lys749=)
18g.31070729T>GCA402112277DSC2c.1818A>C (p.Lys606Asn)
c.2247A>C (p.Lys749Asn)
 COSMIC COSMIC
18g.31070729T=CA2293646641DSC2c.1818A= (p.Lys606=)
c.2247A= (p.Lys749=)
18g.31070731dupCA913189076DSC2c.1818dup (p.Val607SerfsTer?)
c.2247dup (p.Val750SerfsTer?)
18g.31070730T>ACA402112279DSC2c.1817A>T (p.Lys606Ile)
c.2246A>T (p.Lys749Ile)
18g.31070730T>CCA402112281DSC2c.1817A>G (p.Lys606Arg)
c.2246A>G (p.Lys749Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.31070730T>GCA402112283DSC2c.1817A>C (p.Lys606Thr)
c.2246A>C (p.Lys749Thr)
 gnomAD v4
18g.31070730T=CA2293646642DSC2c.1817A= (p.Lys606=)
c.2246A= (p.Lys749=)
18g.31070731T>ACA402112285DSC2c.1816A>T (p.Lys606Ter)
c.2245A>T (p.Lys749Ter)
18g.31070731T>CCA402112287DSC2c.1816A>G (p.Lys606Glu)
c.2245A>G (p.Lys749Glu)
 gnomAD v4
18g.31070731T>GCA022646DSC2c.1816A>C (p.Lys606Gln)
c.2245A>C (p.Lys749Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070731T=CA2293646643DSC2c.1816A= (p.Lys606=)
c.2245A= (p.Lys749=)
18g.31070732G>ACA10587907DSC2c.1815C>T (p.Asp605=)
c.2244C>T (p.Asp748=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070732G>CCA402112289DSC2c.1815C>G (p.Asp605Glu)
c.2244C>G (p.Asp748Glu)
18g.31070732G=CA2293646644DSC2c.1815C= (p.Asp605=)
c.2244C= (p.Asp748=)
18g.31070732G>TCA402112290DSC2c.1815C>A (p.Asp605Glu)
c.2244C>A (p.Asp748Glu)
18g.31070733T>ACA402112292DSC2c.1814A>T (p.Asp605Val)
c.2243A>T (p.Asp748Val)
18g.31070733T>CCA402112294DSC2c.1814A>G (p.Asp605Gly)
c.2243A>G (p.Asp748Gly)
18g.31070733T>GCA402112296DSC2c.1814A>C (p.Asp605Ala)
c.2243A>C (p.Asp748Ala)
18g.31070734C>ACA402112297DSC2c.1813G>T (p.Asp605Tyr)
c.2242G>T (p.Asp748Tyr)
 dbSNP
18g.31070734C>GCA402112298DSC2c.1813G>C (p.Asp605His)
c.2242G>C (p.Asp748His)
 gnomAD v4
18g.31070734C>TCA402112300DSC2c.1813G>A (p.Asp605Asn)
c.2242G>A (p.Asp748Asn)
18g.31070735A=CA2293646645DSC2c.1812T= (p.Asp604=)
c.2241T= (p.Asp747=)
18g.31070735A>CCA402112302DSC2c.1812T>G (p.Asp604Glu)
c.2241T>G (p.Asp747Glu)
18g.31070735A>GCA503384705DSC2c.1812T>C (p.Asp604=)
c.2241T>C (p.Asp747=)
18g.31070735A>TCA402112304DSC2c.1812T>A (p.Asp604Glu)
c.2241T>A (p.Asp747Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.31070736T>ACA402112309DSC2c.1811A>T (p.Asp604Val)
c.2240A>T (p.Asp747Val)
18g.31070736T>CCA402112307DSC2c.1811A>G (p.Asp604Gly)
c.2240A>G (p.Asp747Gly)
18g.31070736T>GCA402112306DSC2c.1811A>C (p.Asp604Ala)
c.2240A>C (p.Asp747Ala)
18g.31070737C>ACA402112312DSC2c.1810G>T (p.Asp604Tyr)
c.2239G>T (p.Asp747Tyr)
18g.31070737C>GCA402112315DSC2c.1810G>C (p.Asp604His)
c.2239G>C (p.Asp747His)
18g.31070737C>TCA402112313DSC2c.1810G>A (p.Asp604Asn)
c.2239G>A (p.Asp747Asn)
 COSMIC COSMIC
18g.31070738T>ACA503384706DSC2c.1809A>T (p.Gly603=)
c.2238A>T (p.Gly746=)
18g.31070738T>CCA503384707DSC2c.1809A>G (p.Gly603=)
c.2238A>G (p.Gly746=)
18g.31070738T>GCA503384708DSC2c.1809A>C (p.Gly603=)
c.2238A>C (p.Gly746=)
18g.31070739C>ACA402112317DSC2c.1808G>T (p.Gly603Val)
c.2237G>T (p.Gly746Val)
18g.31070739C=CA2293646646DSC2c.1808G= (p.Gly603=)
c.2237G= (p.Gly746=)
18g.31070739C>GCA402112320DSC2c.1808G>C (p.Gly603Ala)
c.2237G>C (p.Gly746Ala)
18g.31070739C>TCA035526DSC2c.1808G>A (p.Gly603Glu)
c.2237G>A (p.Gly746Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070740C>ACA402112322DSC2c.1807G>T (p.Gly603Ter)
c.2236G>T (p.Gly746Ter)
18g.31070740C=CA2293646647DSC2c.1807G= (p.Gly603=)
c.2236G= (p.Gly746=)
18g.31070740C>GCA402112324DSC2c.1807G>C (p.Gly603Arg)
c.2236G>C (p.Gly746Arg)
18g.31070740C>TCA402112326DSC2c.1807G>A (p.Gly603Arg)
c.2236G>A (p.Gly746Arg)
 ClinVar dbSNP
18g.31070741A>CCA503384709DSC2c.1806T>G (p.Pro602=)
c.2235T>G (p.Pro745=)
18g.31070741A>GCA503384710DSC2c.1806T>C (p.Pro602=)
c.2235T>C (p.Pro745=)
18g.31070741A>TCA503384711DSC2c.1806T>A (p.Pro602=)
c.2235T>A (p.Pro745=)
 COSMIC COSMIC
18g.31070741_31070742delinsAGCA2293646648DSC2c.1805_1806delinsCT (p.Pro602=)
c.2234_2235delinsCT (p.Pro745=)
18g.31070742G>ACA402112328DSC2c.1805C>T (p.Pro602Leu)
c.2234C>T (p.Pro745Leu)
 ClinVar dbSNP gnomAD v4
18g.31070742G>CCA402112330DSC2c.1805C>G (p.Pro602Arg)
c.2234C>G (p.Pro745Arg)
18g.31070742G>TCA402112332DSC2c.1805C>A (p.Pro602His)
c.2234C>A (p.Pro745His)
18g.31070743delCA645372289DSC2c.1805del (p.Pro602LeufsTer?)
c.2234del (p.Pro745LeufsTer?)
 dbSNP
18g.31070743G>ACA402112334DSC2c.1804C>T (p.Pro602Ser)
c.2233C>T (p.Pro745Ser)
 ClinVar dbSNP gnomAD v4
18g.31070743G>CCA402112336DSC2c.1804C>G (p.Pro602Ala)
c.2233C>G (p.Pro745Ala)
18g.31070743G=CA2293646649DSC2c.1804C= (p.Pro602=)
c.2233C= (p.Pro745=)
18g.31070743G>TCA402112338DSC2c.1804C>A (p.Pro602Thr)
c.2233C>A (p.Pro745Thr)
18g.31070744A>CCA503384714DSC2c.1803T>G (p.Ala601=)
c.2232T>G (p.Ala744=)
18g.31070744A>GCA503384713DSC2c.1803T>C (p.Ala601=)
c.2232T>C (p.Ala744=)
18g.31070744A>TCA503384712DSC2c.1803T>A (p.Ala601=)
c.2232T>A (p.Ala744=)
 gnomAD v4
18g.31070745G>ACA035502DSC2c.1802C>T (p.Ala601Val)
c.2231C>T (p.Ala744Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070745G>CCA402112341DSC2c.1802C>G (p.Ala601Gly)
c.2231C>G (p.Ala744Gly)
18g.31070745G=CA2293646650DSC2c.1802C= (p.Ala601=)
c.2231C= (p.Ala744=)
18g.31070745G>TCA402112342DSC2c.1802C>A (p.Ala601Asp)
c.2231C>A (p.Ala744Asp)
18g.31070746C>ACA402112347DSC2c.1801G>T (p.Ala601Ser)
c.2230G>T (p.Ala744Ser)
 ClinVar
18g.31070746C=CA2293646651DSC2c.1801G= (p.Ala601=)
c.2230G= (p.Ala744=)
18g.31070746C>GCA402112351DSC2c.1801G>C (p.Ala601Pro)
c.2230G>C (p.Ala744Pro)
18g.31070746C>TCA402112349DSC2c.1801G>A (p.Ala601Thr)
c.2230G>A (p.Ala744Thr)
 dbSNP gnomAD v4
18g.31070747T>ACA402112353DSC2c.1800A>T (p.Glu600Asp)
c.2229A>T (p.Glu743Asp)
18g.31070747T>CCA503384715DSC2c.1800A>G (p.Glu600=)
c.2229A>G (p.Glu743=)
18g.31070747T>GCA402112355DSC2c.1800A>C (p.Glu600Asp)
c.2229A>C (p.Glu743Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070747T=CA2293646652DSC2c.1800A= (p.Glu600=)
c.2229A= (p.Glu743=)
18g.31070748T>ACA402112357DSC2c.1799A>T (p.Glu600Val)
c.2228A>T (p.Glu743Val)
18g.31070748T>CCA402112359DSC2c.1799A>G (p.Glu600Gly)
c.2228A>G (p.Glu743Gly)
18g.31070748T>GCA402112360DSC2c.1799A>C (p.Glu600Ala)
c.2228A>C (p.Glu743Ala)
18g.31070749C>ACA402112362DSC2c.1798G>T (p.Glu600Ter)
c.2227G>T (p.Glu743Ter)
18g.31070749C>GCA402112364DSC2c.1798G>C (p.Glu600Gln)
c.2227G>C (p.Glu743Gln)
18g.31070749C>TCA402112366DSC2c.1798G>A (p.Glu600Lys)
c.2227G>A (p.Glu743Lys)
18g.31070750T>ACA503384716DSC2c.1797A>T (p.Thr599=)
c.2226A>T (p.Thr742=)
18g.31070750T>CCA035480DSC2c.1797A>G (p.Thr599=)
c.2226A>G (p.Thr742=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070750T>GCA503384717DSC2c.1797A>C (p.Thr599=)
c.2226A>C (p.Thr742=)
18g.31070750T=CA2293646653DSC2c.1797A= (p.Thr599=)
c.2226A= (p.Thr742=)
18g.31070751G>ACA402112371DSC2c.1796C>T (p.Thr599Ile)
c.2225C>T (p.Thr742Ile)
18g.31070751G>CCA402112372DSC2c.1796C>G (p.Thr599Arg)
c.2225C>G (p.Thr742Arg)
18g.31070751G>TCA402112369DSC2c.1796C>A (p.Thr599Lys)
c.2225C>A (p.Thr742Lys)
18g.31070752T>ACA402112373DSC2c.1795A>T (p.Thr599Ser)
c.2224A>T (p.Thr742Ser)
18g.31070752T>CCA402112375DSC2c.1795A>G (p.Thr599Ala)
c.2224A>G (p.Thr742Ala)
18g.31070752T>GCA402112377DSC2c.1795A>C (p.Thr599Pro)
c.2224A>C (p.Thr742Pro)
18g.31070753G>ACA503384718DSC2c.1794C>T (p.Asn598=)
c.2223C>T (p.Asn741=)
18g.31070753G>CCA402112379DSC2c.1794C>G (p.Asn598Lys)
c.2223C>G (p.Asn741Lys)
18g.31070753G>TCA402112380DSC2c.1794C>A (p.Asn598Lys)
c.2223C>A (p.Asn741Lys)
18g.31070754T>ACA402112383DSC2c.1793A>T (p.Asn598Ile)
c.2222A>T (p.Asn741Ile)
18g.31070754T>CCA402112385DSC2c.1793A>G (p.Asn598Ser)
c.2222A>G (p.Asn741Ser)
18g.31070754T>GCA402112386DSC2c.1793A>C (p.Asn598Thr)
c.2222A>C (p.Asn741Thr)
18g.31070755T>ACA402112388DSC2c.1792A>T (p.Asn598Tyr)
c.2221A>T (p.Asn741Tyr)
18g.31070755T>CCA402112390DSC2c.1792A>G (p.Asn598Asp)
c.2221A>G (p.Asn741Asp)
18g.31070755T>GCA402112392DSC2c.1792A>C (p.Asn598His)
c.2221A>C (p.Asn741His)
18g.31070756T>ACA035469DSC2c.1791A>T (p.Ser597=)
c.2220A>T (p.Ser740=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070756T>CCA503384719DSC2c.1791A>G (p.Ser597=)
c.2220A>G (p.Ser740=)
18g.31070756T>GCA503384720DSC2c.1791A>C (p.Ser597=)
c.2220A>C (p.Ser740=)
18g.31070756T=CA2293646654DSC2c.1791A= (p.Ser597=)
c.2220A= (p.Ser740=)
18g.31070757G>ACA402112396DSC2c.1790C>T (p.Ser597Leu)
c.2219C>T (p.Ser740Leu)
18g.31070757G>CCA402112397DSC2c.1790C>G (p.Ser597Ter)
c.2219C>G (p.Ser740Ter)
18g.31070757G>TCA402112394DSC2c.1790C>A (p.Ser597Ter)
c.2219C>A (p.Ser740Ter)
 dbSNP
18g.31070758A=CA2293646655DSC2c.1789T= (p.Ser597=)
c.2218T= (p.Ser740=)
18g.31070758A>CCA402112399DSC2c.1789T>G (p.Ser597Ala)
c.2218T>G (p.Ser740Ala)
18g.31070758A>GCA402112401DSC2c.1789T>C (p.Ser597Pro)
c.2218T>C (p.Ser740Pro)
 ClinVar dbSNP
18g.31070758A>TCA402112403DSC2c.1789T>A (p.Ser597Thr)
c.2218T>A (p.Ser740Thr)
18g.31070759T>ACA297687699DSC2c.1788A>T (p.Val596=)
c.2217A>T (p.Val739=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070759T>CCA503384722DSC2c.1788A>G (p.Val596=)
c.2217A>G (p.Val739=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070759T>GCA503384721DSC2c.1788A>C (p.Val596=)
c.2217A>C (p.Val739=)
18g.31070759T=CA2293646656DSC2c.1788A= (p.Val596=)
c.2217A= (p.Val739=)
18g.31070760A=CA2293646657DSC2c.1787T= (p.Val596=)
c.2216T= (p.Val739=)
18g.31070760A>CCA402112405DSC2c.1787T>G (p.Val596Gly)
c.2216T>G (p.Val739Gly)
18g.31070760A>GCA035451DSC2c.1787T>C (p.Val596Ala)
c.2216T>C (p.Val739Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070760A>TCA402112407DSC2c.1787T>A (p.Val596Glu)
c.2216T>A (p.Val739Glu)
18g.31070761C>ACA402112410DSC2c.1786G>T (p.Val596Leu)
c.2215G>T (p.Val739Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31070761C=CA2293646658DSC2c.1786G= (p.Val596=)
c.2215G= (p.Val739=)
18g.31070761C>GCA402112411DSC2c.1786G>C (p.Val596Leu)
c.2215G>C (p.Val739Leu)
 gnomAD v4
18g.31070761C>TCA035439DSC2c.1786G>A (p.Val596Ile)
c.2215G>A (p.Val739Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070762A>CCA402112412DSC2c.1785T>G (p.Ile595Met)
c.2214T>G (p.Ile738Met)
18g.31070762A>GCA503384723DSC2c.1785T>C (p.Ile595=)
c.2214T>C (p.Ile738=)
 gnomAD v4
18g.31070762A>TCA503384724DSC2c.1785T>A (p.Ile595=)
c.2214T>A (p.Ile738=)
18g.31070763A>CCA402112413DSC2c.1784T>G (p.Ile595Ser)
c.2213T>G (p.Ile738Ser)
18g.31070763A>GCA402112414DSC2c.1784T>C (p.Ile595Thr)
c.2213T>C (p.Ile738Thr)
18g.31070763A>TCA402112415DSC2c.1784T>A (p.Ile595Asn)
c.2213T>A (p.Ile738Asn)
18g.31070764T>ACA402112418DSC2c.1783A>T (p.Ile595Phe)
c.2212A>T (p.Ile738Phe)
18g.31070764T>CCA402112417DSC2c.1783A>G (p.Ile595Val)
c.2212A>G (p.Ile738Val)
 gnomAD v4
18g.31070764T>GCA402112416DSC2c.1783A>C (p.Ile595Leu)
c.2212A>C (p.Ile738Leu)
18g.31070765T>ACA503384725DSC2c.1782A>T (p.Leu594=)
c.2211A>T (p.Leu737=)
18g.31070765T>CCA503384726DSC2c.1782A>G (p.Leu594=)
c.2211A>G (p.Leu737=)
18g.31070765T>GCA503384727DSC2c.1782A>C (p.Leu594=)
c.2211A>C (p.Leu737=)
18g.31070766A>CCA402112419DSC2c.1781T>G (p.Leu594Arg)
c.2210T>G (p.Leu737Arg)
18g.31070766A>GCA402112421DSC2c.1781T>C (p.Leu594Pro)
c.2210T>C (p.Leu737Pro)
18g.31070766A>TCA402112420DSC2c.1781T>A (p.Leu594Gln)
c.2210T>A (p.Leu737Gln)
18g.31070767G>ACA503384728DSC2c.1780C>T (p.Leu594=)
c.2209C>T (p.Leu737=)
 gnomAD v4
18g.31070767G>CCA402112422DSC2c.1780C>G (p.Leu594Val)
c.2209C>G (p.Leu737Val)
18g.31070767G>TCA402112423DSC2c.1780C>A (p.Leu594Ile)
c.2209C>A (p.Leu737Ile)
18g.31070768G>ACA022634DSC2c.1779C>T (p.Asn593=)
c.2208C>T (p.Asn736=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070768G>CCA402112424DSC2c.1779C>G (p.Asn593Lys)
c.2208C>G (p.Asn736Lys)
18g.31070768G=CA2293646659DSC2c.1779C= (p.Asn593=)
c.2208C= (p.Asn736=)
18g.31070768G>TCA402112425DSC2c.1779C>A (p.Asn593Lys)
c.2208C>A (p.Asn736Lys)
18g.31070769T>ACA402112426DSC2c.1778A>T (p.Asn593Ile)
c.2207A>T (p.Asn736Ile)
18g.31070769T>CCA402112427DSC2c.1778A>G (p.Asn593Ser)
c.2207A>G (p.Asn736Ser)
18g.31070769T>GCA402112428DSC2c.1778A>C (p.Asn593Thr)
c.2207A>C (p.Asn736Thr)
18g.31070770T>ACA402112429DSC2c.1777A>T (p.Asn593Tyr)
c.2206A>T (p.Asn736Tyr)
18g.31070770T>CCA035374DSC2c.1777A>G (p.Asn593Asp)
c.2206A>G (p.Asn736Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070770T>GCA402112430DSC2c.1777A>C (p.Asn593His)
c.2206A>C (p.Asn736His)
18g.31070770T=CA2293646660DSC2c.1777A= (p.Asn593=)
c.2206A= (p.Asn736=)
18g.31070771C>ACA10641320DSC2c.1776G>T (p.Gln592His)
c.2205G>T (p.Gln735His)
 ClinVar dbSNP
18g.31070771C=CA2293646661DSC2c.1776G= (p.Gln592=)
c.2205G= (p.Gln735=)
18g.31070771C>GCA402112431DSC2c.1776G>C (p.Gln592His)
c.2205G>C (p.Gln735His)
18g.31070771C>TCA503384729DSC2c.1776G>A (p.Gln592=)
c.2205G>A (p.Gln735=)
18g.31070772T>ACA402112432DSC2c.1775A>T (p.Gln592Leu)
c.2204A>T (p.Gln735Leu)
18g.31070772T>CCA402112433DSC2c.1775A>G (p.Gln592Arg)
c.2204A>G (p.Gln735Arg)
18g.31070772T>GCA402112434DSC2c.1775A>C (p.Gln592Pro)
c.2204A>C (p.Gln735Pro)
18g.31070773G>ACA402112435DSC2c.1774C>T (p.Gln592Ter)
c.2203C>T (p.Gln735Ter)
 ClinVar
18g.31070773G>CCA402112436DSC2c.1774C>G (p.Gln592Glu)
c.2203C>G (p.Gln735Glu)
18g.31070773G>TCA402112437DSC2c.1774C>A (p.Gln592Lys)
c.2203C>A (p.Gln735Lys)
 gnomAD v4
18g.31070774C>ACA402112438DSC2c.1773G>T (p.Gln591His)
c.2202G>T (p.Gln734His)
18g.31070774C=CA2293646662DSC2c.1773G= (p.Gln591=)
c.2202G= (p.Gln734=)
18g.31070774C>GCA402112439DSC2c.1773G>C (p.Gln591His)
c.2202G>C (p.Gln734His)
18g.31070774C>TCA035362DSC2c.1773G>A (p.Gln591=)
c.2202G>A (p.Gln734=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070775T>ACA402112440DSC2c.1772A>T (p.Gln591Leu)
c.2201A>T (p.Gln734Leu)
18g.31070775T>CCA402112441DSC2c.1772A>G (p.Gln591Arg)
c.2201A>G (p.Gln734Arg)
 ClinVar
18g.31070775T>GCA035347DSC2c.1772A>C (p.Gln591Pro)
c.2201A>C (p.Gln734Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070775T=CA2293646663DSC2c.1772A= (p.Gln591=)
c.2201A= (p.Gln734=)
18g.31070776G>ACA035335DSC2c.1771C>T (p.Gln591Ter)
c.2200C>T (p.Gln734Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31070776G>CCA402112443DSC2c.1771C>G (p.Gln591Glu)
c.2200C>G (p.Gln734Glu)
18g.31070776G=CA2293646664DSC2c.1771C= (p.Gln591=)
c.2200C= (p.Gln734=)
18g.31070776G>TCA402112442DSC2c.1771C>A (p.Gln591Lys)
c.2200C>A (p.Gln734Lys)
18g.31070777G>ACA503384730DSC2c.1770C>T (p.Ala590=)
c.2199C>T (p.Ala733=)
 ClinVar
18g.31070777G>CCA503384731DSC2c.1770C>G (p.Ala590=)
c.2199C>G (p.Ala733=)
18g.31070777G>TCA503384732DSC2c.1770C>A (p.Ala590=)
c.2199C>A (p.Ala733=)
18g.31070778G>ACA10641324DSC2c.1769C>T (p.Ala590Val)
c.2198C>T (p.Ala733Val)
 ClinVar dbSNP gnomAD v4
18g.31070778G>CCA402112444DSC2c.1769C>G (p.Ala590Gly)
c.2198C>G (p.Ala733Gly)
18g.31070778G=CA2293646665DSC2c.1769C= (p.Ala590=)
c.2198C= (p.Ala733=)
18g.31070778G>TCA402112445DSC2c.1769C>A (p.Ala590Asp)
c.2198C>A (p.Ala733Asp)
18g.31070779C>ACA402112446DSC2c.1768G>T (p.Ala590Ser)
c.2197G>T (p.Ala733Ser)
18g.31070779C=CA2293646666DSC2c.1768G= (p.Ala590=)
c.2197G= (p.Ala733=)
18g.31070779C>GCA402112447DSC2c.1768G>C (p.Ala590Pro)
c.2197G>C (p.Ala733Pro)
18g.31070779C>TCA022628DSC2c.1768G>A (p.Ala590Thr)
c.2197G>A (p.Ala733Thr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.31070779dupCA2641388083DSC2c.1768dup (p.Ala590GlyfsTer16)
c.2197dup (p.Ala733GlyfsTer16)
 gnomAD v4
18g.31070780T>ACA402112448DSC2c.1767A>T (p.Leu589Phe)
c.2196A>T (p.Leu732Phe)
18g.31070780T>CCA503384733DSC2c.1767A>G (p.Leu589=)
c.2196A>G (p.Leu732=)
18g.31070780T>GCA402112449DSC2c.1767A>C (p.Leu589Phe)
c.2196A>C (p.Leu732Phe)
18g.31070781A=CA2293646667DSC2c.1766T= (p.Leu589=)
c.2195T= (p.Leu732=)
18g.31070781A>CCA402112450DSC2c.1766T>G (p.Leu589Ter)
c.2195T>G (p.Leu732Ter)
18g.31070781A>GCA402112451DSC2c.1766T>C (p.Leu589Ser)
c.2195T>C (p.Leu732Ser)
18g.31070781A>TCA402112452DSC2c.1766T>A (p.Leu589Ter)
c.2195T>A (p.Leu732Ter)
 dbSNP
18g.31070782A=CA2293646668DSC2c.1765T= (p.Leu589=)
c.2194T= (p.Leu732=)
18g.31070782A>CCA022624DSC2c.1765T>G (p.Leu589Val)
c.2194T>G (p.Leu732Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070782A>GCA503384734DSC2c.1765T>C (p.Leu589=)
c.2194T>C (p.Leu732=)
 ClinVar gnomAD v4
18g.31070782A>TCA402112453DSC2c.1765T>A (p.Leu589Ile)
c.2194T>A (p.Leu732Ile)
18g.31070783A>CCA402112455DSC2c.1764T>G (p.Asp588Glu)
c.2193T>G (p.Asp731Glu)
18g.31070783A>GCA503384735DSC2c.1764T>C (p.Asp588=)
c.2193T>C (p.Asp731=)
18g.31070783A>TCA402112454DSC2c.1764T>A (p.Asp588Glu)
c.2193T>A (p.Asp731Glu)
18g.31070784T>ACA402112456DSC2c.1763A>T (p.Asp588Val)
c.2192A>T (p.Asp731Val)
18g.31070784T>CCA402112457DSC2c.1763A>G (p.Asp588Gly)
c.2192A>G (p.Asp731Gly)
18g.31070784T>GCA402112458DSC2c.1763A>C (p.Asp588Ala)
c.2192A>C (p.Asp731Ala)
18g.31070785C>ACA402112459DSC2c.1762G>T (p.Asp588Tyr)
c.2191G>T (p.Asp731Tyr)
 COSMIC COSMIC
18g.31070785C=CA2293646669DSC2c.1762G= (p.Asp588=)
c.2191G= (p.Asp731=)
18g.31070785C>GCA402112460DSC2c.1762G>C (p.Asp588His)
c.2191G>C (p.Asp731His)
18g.31070785C>TCA035290DSC2c.1762G>A (p.Asp588Asn)
c.2191G>A (p.Asp731Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070786A>CCA402112462DSC2c.1761T>G (p.Asp587Glu)
c.2190T>G (p.Asp730Glu)
18g.31070786A>GCA503384736DSC2c.1761T>C (p.Asp587=)
c.2190T>C (p.Asp730=)
18g.31070786A>TCA402112461DSC2c.1761T>A (p.Asp587Glu)
c.2190T>A (p.Asp730Glu)
18g.31070787T>ACA402112463DSC2c.1760A>T (p.Asp587Val)
c.2189A>T (p.Asp730Val)
 ClinVar dbSNP
18g.31070787T>CCA402112464DSC2c.1760A>G (p.Asp587Gly)
c.2189A>G (p.Asp730Gly)
18g.31070787T>GCA402112465DSC2c.1760A>C (p.Asp587Ala)
c.2189A>C (p.Asp730Ala)
18g.31070787T=CA2293646670DSC2c.1760A= (p.Asp587=)
c.2189A= (p.Asp730=)
18g.31070788C>ACA402112466DSC2c.1759G>T (p.Asp587Tyr)
c.2188G>T (p.Asp730Tyr)
18g.31070788C>GCA402112467DSC2c.1759G>C (p.Asp587His)
c.2188G>C (p.Asp730His)
18g.31070788C>TCA402112468DSC2c.1759G>A (p.Asp587Asn)
c.2188G>A (p.Asp730Asn)
18g.31070789A>CCA503384737DSC2c.1758T>G (p.Pro586=)
c.2187T>G (p.Pro729=)
18g.31070789A>GCA503384738DSC2c.1758T>C (p.Pro586=)
c.2187T>C (p.Pro729=)
18g.31070789A>TCA503384739DSC2c.1758T>A (p.Pro586=)
c.2187T>A (p.Pro729=)
18g.31070789_31070790delinsAGCA2293646671DSC2c.1757_1758delinsCT (p.Pro586=)
c.2186_2187delinsCT (p.Pro729=)
18g.31070790G>ACA402112469DSC2c.1757C>T (p.Pro586Leu)
c.2186C>T (p.Pro729Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.31070790G>CCA402112471DSC2c.1757C>G (p.Pro586Arg)
c.2186C>G (p.Pro729Arg)
18g.31070790G=CA2293646672DSC2c.1757C= (p.Pro586=)
c.2186C= (p.Pro729=)
18g.31070790G>TCA402112470DSC2c.1757C>A (p.Pro586His)
c.2186C>A (p.Pro729His)
18g.31070791delCA915952452DSC2c.1757del (p.Pro586LeufsTer4)
c.2186del (p.Pro729LeufsTer4)
 ClinVar dbSNP
18g.31070791G>ACA402112472DSC2c.1756C>T (p.Pro586Ser)
c.2185C>T (p.Pro729Ser)
 gnomAD v4
18g.31070791G>CCA402112474DSC2c.1756C>G (p.Pro586Ala)
c.2185C>G (p.Pro729Ala)
18g.31070791G=CA2293646673DSC2c.1756C= (p.Pro586=)
c.2185C= (p.Pro729=)
18g.31070791G>TCA402112473DSC2c.1756C>A (p.Pro586Thr)
c.2185C>A (p.Pro729Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070792A=CA2293646674DSC2c.1755T= (p.Ile585=)
c.2184T= (p.Ile728=)
18g.31070792A>CCA402112475DSC2c.1755T>G (p.Ile585Met)
c.2184T>G (p.Ile728Met)
 dbSNP gnomAD v3 gnomAD v4
18g.31070792A>GCA503384740DSC2c.1755T>C (p.Ile585=)
c.2184T>C (p.Ile728=)
18g.31070792A>TCA503384741DSC2c.1755T>A (p.Ile585=)
c.2184T>A (p.Ile728=)
18g.31070793A=CA2293646675DSC2c.1754T= (p.Ile585=)
c.2183T= (p.Ile728=)
18g.31070793A>CCA402112477DSC2c.1754T>G (p.Ile585Ser)
c.2183T>G (p.Ile728Ser)
18g.31070793A>GCA402112476DSC2c.1754T>C (p.Ile585Thr)
c.2183T>C (p.Ile728Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.31070793A>TCA402112478DSC2c.1754T>A (p.Ile585Asn)
c.2183T>A (p.Ile728Asn)
 COSMIC COSMIC
18g.31070794T>ACA402112479DSC2c.1753A>T (p.Ile585Phe)
c.2182A>T (p.Ile728Phe)
 gnomAD v4
18g.31070794T>CCA402112481DSC2c.1753A>G (p.Ile585Val)
c.2182A>G (p.Ile728Val)
18g.31070794T>GCA402112480DSC2c.1753A>C (p.Ile585Leu)
c.2182A>C (p.Ile728Leu)
18g.31070795T>ACA503384742DSC2c.1752A>T (p.Val584=)
c.2181A>T (p.Val727=)
18g.31070795T>CCA503384743DSC2c.1752A>G (p.Val584=)
c.2181A>G (p.Val727=)
 gnomAD v4
18g.31070795T>GCA503384744DSC2c.1752A>C (p.Val584=)
c.2181A>C (p.Val727=)
18g.31070796A>CCA402112482DSC2c.1751T>G (p.Val584Gly)
c.2180T>G (p.Val727Gly)
18g.31070796A>GCA402112483DSC2c.1751T>C (p.Val584Ala)
c.2180T>C (p.Val727Ala)
18g.31070796A>TCA402112484DSC2c.1751T>A (p.Val584Glu)
c.2180T>A (p.Val727Glu)
18g.31070797C>ACA402112485DSC2c.1750G>T (p.Val584Leu)
c.2179G>T (p.Val727Leu)
18g.31070797C>GCA402112486DSC2c.1750G>C (p.Val584Leu)
c.2179G>C (p.Val727Leu)
18g.31070797C>TCA402112487DSC2c.1750G>A (p.Val584Ile)
c.2179G>A (p.Val727Ile)
18g.31070798T>ACA402112488DSC2c.1749A>T (p.Lys583Asn)
c.2178A>T (p.Lys726Asn)
18g.31070798T>CCA035273DSC2c.1749A>G (p.Lys583=)
c.2178A>G (p.Lys726=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070798T>GCA402112489DSC2c.1749A>C (p.Lys583Asn)
c.2178A>C (p.Lys726Asn)
18g.31070798T=CA2293646676DSC2c.1749A= (p.Lys583=)
c.2178A= (p.Lys726=)
18g.31070799T>ACA402112492DSC2c.1748A>T (p.Lys583Ile)
c.2177A>T (p.Lys726Ile)
18g.31070799T>CCA402112491DSC2c.1748A>G (p.Lys583Arg)
c.2177A>G (p.Lys726Arg)
18g.31070799T>GCA402112490DSC2c.1748A>C (p.Lys583Thr)
c.2177A>C (p.Lys726Thr)
18g.31070800T>ACA402112493DSC2c.1747A>T (p.Lys583Ter)
c.2176A>T (p.Lys726Ter)
18g.31070800T>CCA402112494DSC2c.1747A>G (p.Lys583Glu)
c.2176A>G (p.Lys726Glu)
18g.31070800T>GCA402112495DSC2c.1747A>C (p.Lys583Gln)
c.2176A>C (p.Lys726Gln)
 dbSNP
18g.31070800T=CA2293646677DSC2c.1747A= (p.Lys583=)
c.2176A= (p.Lys726=)
18g.31070801T>ACA503384745DSC2c.1746A>T (p.Pro582=)
c.2175A>T (p.Pro725=)
18g.31070801T>CCA503384746DSC2c.1746A>G (p.Pro582=)
c.2175A>G (p.Pro725=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31070801T>GCA297687769DSC2c.1746A>C (p.Pro582=)
c.2175A>C (p.Pro725=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31070801T=CA2293646678DSC2c.1746A= (p.Pro582=)
c.2175A= (p.Pro725=)
18g.31070802G>ACA10577046DSC2c.1745C>T (p.Pro582Leu)
c.2174C>T (p.Pro725Leu)
 ClinVar dbSNP
18g.31070802G>CCA402112496DSC2c.1745C>G (p.Pro582Arg)
c.2174C>G (p.Pro725Arg)
18g.31070802G=CA2293646679DSC2c.1745C= (p.Pro582=)
c.2174C= (p.Pro725=)
18g.31070802G>TCA402112497DSC2c.1745C>A (p.Pro582Gln)
c.2174C>A (p.Pro725Gln)
18g.31070803G>ACA402112498DSC2c.1744C>T (p.Pro582Ser)
c.2173C>T (p.Pro725Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.31070803G>CCA402112499DSC2c.1744C>G (p.Pro582Ala)
c.2173C>G (p.Pro725Ala)
 gnomAD v4
18g.31070803G=CA2293646680DSC2c.1744C= (p.Pro582=)
c.2173C= (p.Pro725=)
18g.31070803G>TCA402112500DSC2c.1744C>A (p.Pro582Thr)
c.2173C>A (p.Pro725Thr)
 gnomAD v4
18g.31070804T>ACA402112501DSC2c.1743A>T (p.Gln581His)
c.2172A>T (p.Gln724His)
18g.31070804T>CCA503384747DSC2c.1743A>G (p.Gln581=)
c.2172A>G (p.Gln724=)
18g.31070804T>GCA402112502DSC2c.1743A>C (p.Gln581His)
c.2172A>C (p.Gln724His)
18g.31070805T>ACA402112504DSC2c.1742A>T (p.Gln581Leu)
c.2171A>T (p.Gln724Leu)
18g.31070805T>CCA402112505DSC2c.1742A>G (p.Gln581Arg)
c.2171A>G (p.Gln724Arg)
18g.31070805T>GCA402112503DSC2c.1742A>C (p.Gln581Pro)
c.2171A>C (p.Gln724Pro)
18g.31070806G>ACA402112506DSC2c.1741C>T (p.Gln581Ter)
c.2170C>T (p.Gln724Ter)
18g.31070806G>CCA402112507DSC2c.1741C>G (p.Gln581Glu)
c.2170C>G (p.Gln724Glu)
18g.31070806G>TCA402112508DSC2c.1741C>A (p.Gln581Lys)
c.2170C>A (p.Gln724Lys)
18g.31070807T>ACA402112509DSC2c.1740A>T (p.Lys580Asn)
c.2169A>T (p.Lys723Asn)
18g.31070807T>CCA503384748DSC2c.1740A>G (p.Lys580=)
c.2169A>G (p.Lys723=)
 gnomAD v4
18g.31070807T>GCA402112510DSC2c.1740A>C (p.Lys580Asn)
c.2169A>C (p.Lys723Asn)
18g.31070808T>ACA402112511DSC2c.1739A>T (p.Lys580Ile)
c.2168A>T (p.Lys723Ile)
18g.31070808T>CCA402112512DSC2c.1739A>G (p.Lys580Arg)
c.2168A>G (p.Lys723Arg)
18g.31070808T>GCA402112513DSC2c.1739A>C (p.Lys580Thr)
c.2168A>C (p.Lys723Thr)
18g.31070809T>ACA402112514DSC2c.1738A>T (p.Lys580Ter)
c.2167A>T (p.Lys723Ter)
 COSMIC COSMIC
18g.31070809T>CCA402112515DSC2c.1738A>G (p.Lys580Glu)
c.2167A>G (p.Lys723Glu)
 gnomAD v4
18g.31070809T>GCA402112516DSC2c.1738A>C (p.Lys580Gln)
c.2167A>C (p.Lys723Gln)
18g.31070810A>CCA503384749DSC2c.1737T>G (p.Ser579=)
c.2166T>G (p.Ser722=)
18g.31070810A>GCA503384750DSC2c.1737T>C (p.Ser579=)
c.2166T>C (p.Ser722=)
18g.31070810A>TCA503384751DSC2c.1737T>A (p.Ser579=)
c.2166T>A (p.Ser722=)
18g.31070811G>ACA402112519DSC2c.1736C>T (p.Ser579Phe)
c.2165C>T (p.Ser722Phe)
18g.31070811G>CCA402112518DSC2c.1736C>G (p.Ser579Cys)
c.2165C>G (p.Ser722Cys)
18g.31070811G>TCA402112517DSC2c.1736C>A (p.Ser579Tyr)
c.2165C>A (p.Ser722Tyr)
18g.31070812A>CCA402112520DSC2c.1735T>G (p.Ser579Ala)
c.2164T>G (p.Ser722Ala)
18g.31070812A>GCA402112521DSC2c.1735T>C (p.Ser579Pro)
c.2164T>C (p.Ser722Pro)
 ClinVar
18g.31070812A>TCA402112522DSC2c.1735T>A (p.Ser579Thr)
c.2164T>A (p.Ser722Thr)
18g.31070813C>ACA503384752DSC2c.1734G>T (p.Thr578=)
c.2163G>T (p.Thr721=)
 dbSNP gnomAD v3 gnomAD v4
18g.31070813C=CA2293646681DSC2c.1734G= (p.Thr578=)
c.2163G= (p.Thr721=)
18g.31070813C>GCA503384753DSC2c.1734G>C (p.Thr578=)
c.2163G>C (p.Thr721=)
18g.31070813C>TCA035221DSC2c.1734G>A (p.Thr578=)
c.2163G>A (p.Thr721=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31070813_31070814delinsCGCA2293646682DSC2c.1733_1734delinsCG (p.Thr578=)
c.2162_2163delinsCG (p.Thr721=)

Number of alleles fetched